August is National Spinal Muscular Atrophy Awareness Month, and research in this disease has never been more promising.
Major themes in spinal muscular atrophy (SMA) research include increasing cellular production of the needed SMN protein; inserting new genes for the needed SMN protein; stabilizing shorter SMN protein molecules produced by people with SMA; and strengthening the nerve-muscle connections (neuromuscular junctions) that are weakened in this disease.
Here are some recent news stories about SMA from the MDA website.
Antisense Treatment Restores Full-Length SMN in SMA Mice: When mice with an SMA-like disease received a synthetic antisense molecule, they made more full-length SMN protein; newborn mice grew longer tails.
SMA Therapeutics: Changing the Code: Researchers have demonstrated that a technique called trans-splicing can lessen the severity of symptoms and increase life span in mice with SMA.
SMA Research: Saving Shortened SMN Protein: Preserving a shortened version of the SMN protein rescued SMN-deficient cells, opening the door to a possible new therapeutic strategy
SMN Gene Transfer Benefits Mice: British researchers report injections of SMN genes significantly increased life span in mice with a disease resembling spinal muscular atrophy.
Gene Therapy Rescues Mice with SMA: A research team reports 'unprecedented' improvement in newborn SMA-affected mice that received gene therapy via intravenous injection.
SMA Research: Strengthening the Junctions: MDA-supported researchers in Ottawa have identified a biological pathway that could become a new treatment avenue in spinal muscular atrophy (SMA).